ClinVar Miner

Submissions for variant NM_000814.6(GABRB3):c.1342A>G (p.Ile448Val)

gnomAD frequency: 0.00003  dbSNP: rs377215030
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ClinVar version:
Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000863526 SCV001004207 likely benign Epilepsy, childhood absence, susceptibility to, 1; Epilepsy, childhood absence, susceptibility to, 5 2023-12-31 criteria provided, single submitter clinical testing
GeneDx RCV002225754 SCV002504307 likely benign not provided 2020-01-03 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.

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